A Rebel Alliance

No, I'm not talking Star Wars. 

I'm talking parents of rare children. Specifically, I'm sharing an update on the PIGN-CDG drug-repurposing project. If you don't have time to read much, then check out this update from Perlara: Research Update. If you have more time, continue on.

As you may be aware from prior posts, our rare community is researching whether existing known drugs or compounds could be beneficial in helping our PIGN children. You can read more about the initial scope of the project here: Drug Repurposing Fundraising Many of you have generously donated directly or supported AJ's fundraisers selling fidgets and dragons that he creates himself on our 3-D printer. (You can still donate directly here: Tax-Deductible Donation or order dragons/fidgets here: AJ's Fundraiser)

To greatly simplify PIGN-CDG, Teddy's body cannot process sugars on the most basic cellular level. If you recall sugar chains and cell processing from biology, well, kudos to you because I don't. But you can think of it like an assembly line in a factory that has a broken part that prevents most of the pieces from being perfectly assembled. They may be somewhat functional, but it's rare (no pun intended) that they are fully functional. This results in all the challenges our children face, from seizures to hypotonia to respiratory challenges to developmental delays and the list continues. Their bodies don't function right on the cellular level, which obviously impacts them as a whole. 

It doesn't stop Ted from enjoying flying fighter jets, though.

This also complicates potential treatments because all medications and treatments can be impacted as well by these faulty sugar chains and processing problems. Everything can be a bit (or a lot) off with our children. Combine that with the fact that there are approximately 100 known cases of PIGN-CDG, and well, it's understandable why there's no treatment for this disorder. We can only treat the individual symptoms (aka treat the seizures, manage the hypotonia, etc.) and do nothing to improve the overall health of our children. 

That's why this drug-repurposing project is invaluable. This ground-breaking scientific research is taking a huge bank of known medications and compounds to see if anything that already exists could be used to improve the overall health. This is a long, expensive process. 

But it's so exciting that we're seeing promising results. As Perlara's update shares, some families have been piloting ascorbyl palmitate and seeing improvements. This compound can be easily accessed without a prescription in many countries, though each family must still work through their medical team. We are a bit later to start due to the events of last year, but we have baseline labs scheduled in a week with a bottle of ascorbyl palmitate secured. (Hmm, that reminds me we need to take baseline videos of Teddy this weekend.) We will start him at a low dose for a month, monitor and recheck labs and then potentially increase his dose. 

While we don't anticipate any overnight, drastic changes, any improvements for our PIGN children are huge. You may read the research update and think, well, that's just normal developmental milestones - it could be just that the child is getting older and advancing. But our children don't follow normal milestones, and they lag months or years behind most, if they achieve them. So any progress noted in a couple months of trialing the compound is fairly reasonably associated with the compound (though we will leave that up to the scientists and doctors with baseline and other labs, video evidence, recorded seizures, etc.)

We're excited about what this could mean for Teddy. We're excited about what it could mean for all our PIGN families, both present and those who get this difficult diagnosis in the future. So the next steps, while we continue to fundraise, is that because it's an over-the-counter compound, we're able to pilot and trial on our own as families (similar to how we've fundraised) without FDA approval. Perlara is busy in the lab and will be testing the best hits, including this ascorbyl palmitate, on the DNA samples from various PIGN children, including Teddy. This is the next step to evaluate what works best with real human PIGN mutations (of which there are many). The hope is that we continue to make progress and do move to the point of FDA trails, whether for this compound we have now or something different. 

The science will take years, and we so appreciate your generosity and support. It's exciting (and expensive) to be at the forefront of medical and scientific research that will directly benefit others like Teddy.

Middle School

There will be gaps in our journey because last year was hard, but I'm excited to share about Teddy's middle school journey. 

Let's rewind and remember that for the last 6 years, Teddy was at the same school. For the last 5 years, Teddy had the same teacher. We had a lot of consistency, mutual understanding and a deep understanding of Teddy (which takes time and effort since he's non-verbal). So needless to say, any transition, no matter how amazing the school and the team, was a bit nerve-wracking. We prepped as best as we could with a transitional IEP ... followed by another IEP the week before school to ensure Teddy's safety plan was sufficient. (That's a whole long story that will never get told, but it was a summer of advocacy to make sure we got what we needed.) And we had another IEP in December to recertify Teddy's qualification for special education (ugh, don't get me started on that IEP). 

It's been a learning curve for everyone. 

Teddy's team is learning him and how to best support him (and manage his challenges). They finally saw his full true colors about 1.5 months into school because of a med change and fully adapting to middle school. After a rough week, things settled back down. He made friends quickly, despite knowing no one aside from AJ and his friends and the neighbor girls at school. 

Teddy's learning middle school expectations, which are different than elementary. He's held to a higher standard for academics and focus, and sometimes he meets that challenge. Other times, he demonstrates his great leadership skills by forcing his classmates to do his bidding with hand-over-hand support for them. He gets to experience bits of band class, which he enjoys. He loves that there's a piano in his classroom for rewards. 

We're learning what's different in middle school. We're missing the fun art projects and Christmas gifts that we always got in elementary school ... along with the always entertaining concerts. Communication was a big challenge until the December IEP. We decided to use a Google doc, so we've been getting daily updates from various teachers and now have a great way to provide updates from home. This has been a game changer for all of us.

With so much to say about the last four months, I'll share 2 highlights:

One of our neighbor girls is in 8th grade. As weird as it sounds, 6th and 8th graders share gym class, so we learned that Teddy is in her gym class. It turns out that on the first day of gym, when Teddy was so excited to see a person he knew (because this is a new school for him with no one from his old school), he was insistent on playing with her. Other kids asked, "You know him?" And, bless her heart, she immediately responded with, "Yeah, you got a problem with that?" I'm sure the other kids were more curious than anything how she knew the new boy who doesn't speak, but I love how she immediately went on the defensive to protect Teddy. That girl may cause gray hair for her parents in her teen years, but I'll love her forever for this.

I love everything about this. Teddy's clearly loving his delivery gig.

The other is his life skills/teen life class. The teacher is amazing! AJ adored her when he took summer school class with her and had teen life last year. In fact, he was tempted to give up band because he loves her that much as a teacher that he wanted to take her class this year in 7th grade. This class is the single best class for Teddy in my opinion. It focuses on life skills, primarily cooking and baking, though laundry and cleaning are also a part of it. But it also incorporates all his other skills (OT, PT, speech and social) in a super fun setting. The stories from this class are the absolute best, and Teddy shines in this class more than he ever will with reading, writing or math. One of the cool things the students do is deliver treats throughout the school, practicing all their valuable life skills. I'm so glad that Teddy is able to have this class continue next semester. (And that is a good story that I probably will tell in another post.)

A Break Due to Heartbreak

It's been months since I've posted because life this fall has been hard on so many levels. 

The last post I wrote was about the start of middle school. Our boys started middle school with me (their mom) pretty darn useless in doing anything beyond caring for myself due to a double mastectomy. Thankfully those surgeries (because of course there were complications that required surgery again the next day) were the extent of my treatment for two microinvasions of breast cancer. 

So the end of August and all of September were spent recovering from surgery and adjusting to middle school. Just as I was getting back to normal activities, my mom was hospitalized due to lung issues (while dealing with her own diagnosis of small cell lung cancer since this spring). That turned into spending the entire month of October in the hospital before passing away the end of October. 

That meant my boys had a pretty useless mom from mid-August through mid-November when I finally returned back to our home. Not an easy start to middle school for Teddy, but he's adjusted remarkably well and loves school. (We had a rough couple weeks while tapering off a med that we trialed for behaviors, specifically aggression toward his brother. It was so nice when I returned home to have our Teddy back with all his happiness, joy, energy and at least his normal not-perfect sleep versus insomnia.)

And we're still grieving. This loss is so hard because my mom was such a huge part of our lives. 

She was AJ's touchstone, one of his go-to people when he was sad, happy or simply needed some attention. She learned to play Minecraft to play with him. She encouraged him with sewing and every other hobby he wanted to pursue and did so many fun things with him. She was his top salesperson in selling fidgets and dragons to fundraise for CDG research. The one regret she had, and AJ has as well, was that they didn't get to do the hot air balloon ride they had planned this fall due to weather cancellations. 

She was always willing to watch Teddy, even as it got to be physically too much for her. She would take him for overnights, even if it meant she slept on the floor because he fell asleep in the living room, and she couldn't carry him upstairs. She always said yes to watching him and did all the fun things with him, which are things that aren't fun for anyone but Teddy. She loved and embraced him fully for who he was, celebrated every accomplishment and was so darn proud of him for simply being Teddy. 

She was here at least once a month, helping me prepare for farmers' markets and spending time with me packaging and selling. She was always willing to help, to spend the time here and to give of herself. The drive here was worth it to make our lives easier. She encouraged Dave and I to take time for ourselves, helping to watch the boys when we did our solo trip to the Virgin Islands (now almost 10 years ago), letting us volunteer together for SkillsUSA and taking AJ on long weekends backpacking. 

There's such a hole in our hearts, and life has been hard to pick up the pieces. So while there's much to update, I'm giving myself grace in these posts and will update here when I can. 

Right on Track

We've reached the end of the first week of middle school, and we're right on track. 

Quite literally, actually. 

We spent several months this summer working with our local school district regarding Teddy's use of a GPS tracker at school. We had to navigate privacy and security concerns (for other students) as well as district policies. We worked with his tracking device company's school liaison educators to ensure our district understands the capabilities of his tracker and why it's best for Teddy. 

It took until an IEP a week before school started, but we reached consensus on how to best support Teddy. We're really happy with the solution as we feel it's best for Teddy to ensure his safety. It's also, hopefully, an opportunity to work toward changing district policy to allow other families to use similar devices.

At any rate, it allows us to know exactly where Teddy is, ensure he makes it to school, to his after-school program and track him should he elope from school ... not that he's ever done that before ... oh wait ... that's a good story.

Gosh, I love these two goofs!

While he does have his older brother at school to advocate and look out for him, AJ has yet to see Teddy at school because their paths don't cross. But several of AJ's friends have said hi to Teddy in the halls, and he has gym with one of the neighbor girls, which he thinks is the coolest thing. (He doesn't care that she's a mature 8th grader, and he's only a 6th grader ... he'll still hang with her.)

Middle School - Here We Come!

I don't know how I have 2 middle schoolers. 

But I do.

And they're at the same school for the first time in 8 years.

The last time AJ and Teddy went to the same school, it was for 3K and 4K. I remember that day so clearly, thanks in part to Facebook memories where we sang about how the Mamas in the Tahoe were so excited for a break with her boys at school for a few hours. I also remember AJ singing because he was so excited to go to 4K. 

Be still my heart! This was when Teddy could barely walk.

And when they went to school together, when they were sweet little 3- and 4-year-old boys, AJ loved every time he saw Teddy riding around school in the wagon, proudly waving and telling his classmates that was his brother Teddy.

Now AJ is a 7th grader, and Teddy is a 6th grader. Ironically, they're both at the same school where they started their educational journeys (as this is both an elementary and middle school). AJ is super excited to have Teddy at his school because he loves his brother ... but he's also worried about bullying and the lack of his extra time in the morning with Dave or me. 

It's a bit terrifying since it's a new school, new teacher (after the same one for 5 years!) and almost all new support staff, aides and other teachers. (He does have the same speech therapist as last year, thankfully, and does have the same nurse from 3K all those years ago, along with same PT from all those years ago when he was a floppy baby boy.) The most terrifying is that it's all brand new kids, with none of his friends who've grown to know and love him the last 6 years. Not a single one will be at his new school because Teddy was not at our home school, meaning all his classmates are going to a different school and now Teddy is coming to our home school for middle school.

But I'm so excited for the opportunities in middle school for Teddy! To highlight a few:

1. He's at the same school as AJ, for better or worse. I love that AJ will look out for him, as will our neighbor girls and hopefully AJ's friends. 
2. Teddy is a social butterfly. He'll make friends incredibly fast and will quickly endear his teachers, paras and make himself known to all the adults in the school.
3. Teddy gets support to attend gym with a whole bunch of his peers, modified with the support of his adapted PE teachers. I think he'll love that overall.
4. Teen life aka home ec. is a modified class for Teddy and a handful of his peers. He is going to absolutely love even the laundry aspect but especially the kitchen skills. This teacher also is amazing (AJ loved her class!) and does a coffee cart with Ted's class. I can only imagine how excited he will be to participate in this learning opportunity. 
5. Band is one of Teddy's classes. We had to select band, choir or orchestra as one is required for all 6th graders. I said I wouldn't trust him anywhere near the string instruments, so that ruled out orchestra, and he's non-verbal, which meant choir wasn't a great fit. So band it is! AJ also does band and loves it and the teacher! So it'll be really interesting for the poor teacher to have a great student like AJ and then Teddy. His para will get a workout in band, no doubt, but I think he'll love all the music and be so proud to participate with his peers.

Those are a few of thing things we're looking forward to with middle school. There's been so many developments here (last-minute IEP, acceptance into an afterschool program and some pretty major health issues I've been navigating), so I'll work on those updates another time. 

For now, we get a good night's sleep because we have 2 middle schoolers tomorrow!

They've gotten a bit bigger in the past 8 years.

A Hiking We Will Go!

Ya'll, life does not slow down. It's about to get extra crazy here, so I wanted to share a quick update since we got our Huckleberry adaptive hiking cart. 

If you've followed our journey for a while, you've seen me post multiple times about hiking because it's a key part of our vacations and our life. While we don't get to hike as much as we'd like with kids (and Teddy in particular), hiking has allowed us to explore so many incredible things. You can read out our hiking adventures ... at least some of them ... here. And you can read the bittersweet end to hiking while carrying Teddy here. 

We truly thought that was the end of our hiking journey with Teddy, unless we could take his adaptive chair on a particular trail. Then we discovered the Huckleberry available for pre-order this spring and ordered one within a week! (A huge thank you to our generous family member who helped sponsor Teddy's Huckleberry!) 

Teddy's Huckleberry arrived in the last couple weeks, and we've taken it for spins around the yard and two actual hikes. It was definitely a learning curve for all of us, as Teddy was pretty skittish and uncertain about riding in it at first, but he's now more than willing to clamber on for a ride. 

Amazing friends help pull (and stabilize) your child!

Yesterday two of my amazing friends joined me for a hike with Teddy, and we had a great time. I'm thankful for strong friends to lend helping hands who love Teddy and have a sense of adventure because we certainly needed it for part of the trail as you can see in the video.

We're looking forward to many more hikes and adventures with this!

A beautiful scenic overlook (up the side of a Wisconsin mountain).

Happy Birthday Buddy!

How is it possible that my little guy is 11?!? 

He's not so little any more ...

Teddy's birthday is often a mix of emotions:

• Gratitude to have another year with Teddy. When we got his diagnosis at 2.5 years old, we read the life expectancy was 3 years old. Given that there are only about 100 known cases of PIGN-CDG in the world, we know far too many families who've buried their children from this diagnosis. Yet Teddy and others continue to thrive and write their own stories.  
• Sadness that comes with comparison. In the words of Teddy's namesake, "Comparison is the thief of joy." Some years it's easy to get lost in the rabbit hole of what Teddy can't do compared to others his age. It's especially easy when shopping for gifts is hard.
• Happiness of the celebration with family and friends. The best thing for Teddy isn't presents, but rather the presence of his favorite people.

This year was extra chaotic because I had a farmer's market the morning of his birthday, so this year didn't come with quite so many emotions. I lived in the land of happiness and gratitude, loving seeing him so happy as he spent his afternoon and evening with his favorite people.

Birthday buddies - Teddy & Collin got to celebrate their birthdays together last week.

We invited family, neighbors and friends, and so many of them made an appearance (whether that was for Teddy or the pulled pork is debatable). I snuck him away for a quick visit for his sitter's graduation party, and he was overwhelmed when we returned home because so many of his favorites were here that he couldn't decide who to play with first! 

We're so blessed to have Teddy as our son and blessed beyond measure to have the community that surrounds and loves on him!